Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.32888319A>G , CM000677.2:g.32888319A>G	GRCh38
NC_000015.9:g.33180520A>G , CM000677.1:g.33180520A>G	GRCh37
NC_000015.8:g.30967812A>G	NCBI36
NG_042863.1:g.311415T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001277313.2:c.3715-27T>C MANE Select	NP_001264242.1:n.3715-27T>C
ENST00000616417.5:c.3715-27T>C MANE Select	ENSP00000479134.1:n.3715-27T>C
NM_001103184.3:c.3046-27T>C	NP_001096654.1:n.3046-27T>C
NM_001103184.4:c.3046-27T>C	NP_001096654.1:n.3046-27T>C
NM_001277313.1:c.3715-27T>C	NP_001264242.1:n.3715-27T>C
ENST00000334528.13:c.3046-27T>C	ENSP00000333950.9:n.3046-27T>C
ENST00000559047.5:c.3715-27T>C	ENSP00000454047.1:n.3715-27T>C
ENST00000561249.5:c.3421-27T>C	ENSP00000453443.1:n.3421-27T>C
ENST00000616417.4:c.3715-27T>C	ENSP00000479134.1:n.3715-27T>C
ENST00000672206.1:c.1981-27T>C	ENSP00000500647.1:n.1981-27T>C
XM_011521504.1:c.3715-27T>C	XP_011519806.1:n.3715-27T>C
XM_011521504.3:c.3715-27T>C	XP_011519806.1:n.3715-27T>C
XM_011521505.1:c.3715-27T>C	XP_011519807.1:n.3715-27T>C
XM_011521505.2:c.3715-27T>C	XP_011519807.1:n.3715-27T>C
XM_011521506.1:c.3421-27T>C	XP_011519808.1:n.3421-27T>C
XM_011521506.3:c.3421-27T>C	XP_011519808.1:n.3421-27T>C
XM_011521507.1:c.3715-27T>C	XP_011519809.1:n.3715-27T>C
XM_011521507.2:c.3715-27T>C	XP_011519809.1:n.3715-27T>C
XM_011521509.1:c.2065-27T>C	XP_011519811.1:n.2065-27T>C
XM_011521509.3:c.2065-27T>C	XP_011519811.1:n.2065-27T>C
XM_011521510.1:c.1972-27T>C	XP_011519812.1:n.1972-27T>C
XM_011521511.1:c.1939-27T>C	XP_011519813.1:n.1939-27T>C
XM_011521511.3:c.1939-27T>C	XP_011519813.1:n.1939-27T>C
XM_011521512.1:c.1525-27T>C	XP_011519814.1:n.1525-27T>C
XM_017022130.2:c.3715-27T>C	XP_016877619.1:n.3715-27T>C
XM_017022131.1:c.3715-27T>C	XP_016877620.1:n.3715-27T>C
XM_017022132.2:c.1981-27T>C	XP_016877621.1:n.1981-27T>C
XM_017022133.2:c.1885-27T>C	XP_016877622.1:n.1885-27T>C
XM_017022134.2:c.1882-27T>C	XP_016877623.1:n.1882-27T>C
XM_017022135.2:c.1705-27T>C	XP_016877624.1:n.1705-27T>C